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Results: 1 to 20 of 46

Tests names and labsConditionsGenes, analytes, and microbesMethods

qChip 1M

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 60k post-natal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 400

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

High-Resolution Rapid Microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

qChip 60k prenatal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 180

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

Holoprosencephaly Panel

Genetic Services Laboratory University of Chicago
United States
216
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Holoprosencephaly Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
88
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Microform Holoprosencephaly (HPE10) via the DISP1 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Autosomal Dominant, Non-Syndromic Holoprosencephaly via the GAS1 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Panel

PreventionGenetics, part of Exact Sciences
United States
1014
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Holoprosencephaly Panel

GeneDx
United States
217
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ciliopathies

Asper Biogene Asper Biogene LLC
Estonia
166120
  • C Sequence analysis of the entire coding region

Structural Heart Disease NGS Panel

Fulgent Genetics
United States
7328
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuronal Migration Disorders NGS Panel

Fulgent Genetics
United States
39283
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Heart Defect NGS Panel

Fulgent Genetics
United States
377114
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cerebral Cortical Malformation NGS Panel

Fulgent Genetics
United States
21042
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HOLOPROSENCEPHALY

Laboratorio de Genetica Clinica SL
Spain
15
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Holoprosencephaly: gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
114
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 46

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.